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Title: Y-chromosome polymorphism: Possible largest Y chromosome in man?

Abstract

The role of variations (inversions/deletion or duplication) in the heterochromatin in gonadal development and function, reproductive fitness, and malignant disease has been extensively studied. However, the causal-relationship of large Y (Yqh+) and repeated fetal loss has not been established unequivocally. An Arab couple (?Bedouin origin) with a history of repeated abortions were investigated. Karyotype analysis of the husband showed a very large Y chromosome, confirmed by GTG-, QFQ- and CBG-banding techniques. C-banding showed discontinuous distribution of the heterochromatin blocks separated by pale bands. The origin of the large heterochromatin segment could be due to tandem duplication of the Yq region or translocation (Yq:Yq). No other relatives (males) of the propositus have been available for investigation. Polymorphism of the Y chromosome could be attributed to evolutionary changes from an ancestral type, either by deletion or duplication of the heterochromatin segment. More detailed studies on isolated, aboriginal/tribal human populations will enable us to better understand the significance of the Y chromosome polymorphism.

Authors:
; ;  [1]
  1. Kuwait Medical Genetics Centre, Sulaibikat (Kuwait); and others
Publication Date:
OSTI Identifier:
135565
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1331
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN Y CHROMOSOME; CHROMOSOMAL ABERRATIONS; SIZE; CORRELATIONS; BIOLOGICAL EVOLUTION; ABORTION; PATIENTS; KARYOTYPE; FETUSES; HETEROCHROMATIN; BANDING TECHNIQUES

Citation Formats

Murthy, D S.K., Al-Awadi, S A, and Bastaki, L. Y-chromosome polymorphism: Possible largest Y chromosome in man?. United States: N. p., 1994. Web.
Murthy, D S.K., Al-Awadi, S A, & Bastaki, L. Y-chromosome polymorphism: Possible largest Y chromosome in man?. United States.
Murthy, D S.K., Al-Awadi, S A, and Bastaki, L. 1994. "Y-chromosome polymorphism: Possible largest Y chromosome in man?". United States.
@article{osti_135565,
title = {Y-chromosome polymorphism: Possible largest Y chromosome in man?},
author = {Murthy, D S.K. and Al-Awadi, S A and Bastaki, L},
abstractNote = {The role of variations (inversions/deletion or duplication) in the heterochromatin in gonadal development and function, reproductive fitness, and malignant disease has been extensively studied. However, the causal-relationship of large Y (Yqh+) and repeated fetal loss has not been established unequivocally. An Arab couple (?Bedouin origin) with a history of repeated abortions were investigated. Karyotype analysis of the husband showed a very large Y chromosome, confirmed by GTG-, QFQ- and CBG-banding techniques. C-banding showed discontinuous distribution of the heterochromatin blocks separated by pale bands. The origin of the large heterochromatin segment could be due to tandem duplication of the Yq region or translocation (Yq:Yq). No other relatives (males) of the propositus have been available for investigation. Polymorphism of the Y chromosome could be attributed to evolutionary changes from an ancestral type, either by deletion or duplication of the heterochromatin segment. More detailed studies on isolated, aboriginal/tribal human populations will enable us to better understand the significance of the Y chromosome polymorphism.},
doi = {},
url = {https://www.osti.gov/biblio/135565}, journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}